C0346153[trait identifier] AND "GeneKor MSA"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 127735	NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn)	BARD1 (S761N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 232439	NM_000465.4(BARD1):c.2224T>A (p.Leu742Met)	BARD1 (L742M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 140927	NM_000465.4(BARD1):c.1915T>C (p.Cys639Arg)	BARD1 (C639R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 127722	NM_000465.4(BARD1):c.1718T>C (p.Ile573Thr)	BARD1 (I573T +3 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 127720	NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter)	BARD1 (Q564* +3 more)	Single nucleotide variant (nonsense +2 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 141608	NM_000465.4(BARD1):c.1448A>G (p.His483Arg)	BARD1 (H483R +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 479183	NM_000465.4(BARD1):c.1333G>A (p.Glu445Lys)	BARD1 (E445K +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 142247	NM_000465.4(BARD1):c.1127C>T (p.Ser376Leu)	BARD1 (S376L +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 127746	NM_000465.4(BARD1):c.716T>A (p.Leu239Gln)	BARD1 (L239Q +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 127744	NM_000465.4(BARD1):c.690C>G (p.Asp230Glu)	BARD1 (D230E +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 545984	NM_000465.4(BARD1):c.632T>A (p.Leu211Ter)	BARD1 (L211* +1 more)	Single nucleotide variant (nonsense +2 more)	Familial cancer of breast +2 more	GPathogenic/Likely pathogenic
Select item 584501	NM_000465.4(BARD1):c.370A>G (p.Lys124Glu)	BARD1 (K124E +1 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast +1 more	GUncertain significance
Select item 140974	NM_000465.4(BARD1):c.160A>G (p.Thr54Ala)	BARD1 (T54A)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 141745	NM_000465.4(BARD1):c.26_40del (p.4_8NRQPR[1])	BARD1	Deletion (inframe_deletion +1 more)	not provided +4 more	GUncertain significance
Select item 457480	NM_005732.4(RAD50):c.587G>A (p.Arg196His)	RAD50 (R196H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 127990	NM_005732.4(RAD50):c.1094G>A (p.Arg365Gln)	RAD50 (R365Q)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 127993	NM_005732.4(RAD50):c.1277A>G (p.Gln426Arg)	RAD50 (Q426R)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 127769	NM_000535.7(PMS2):c.1999G>A (p.Glu667Lys)	PMS2 (E667K +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +6 more	GUncertain significance
Select item 6940	NM_002485.5(NBN):c.657_661del (p.Lys219fs)	NBN (K137fs +1 more)	Deletion (frameshift variant)	Aplastic anemia +7 more	GPathogenic
Select item 3048	NM_000051.4(ATM):c.146C>G (p.Ser49Cys)	ATM (S49C)	Single nucleotide variant (missense variant)	Familial cancer of breast	GBenign FDA Recognized database
Select item 140915	NM_000051.4(ATM):c.749G>A (p.Arg250Gln)	ATM (R250Q)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 453766	NM_000051.4(ATM):c.976A>G (p.Ile326Val)	ATM (I326V)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GConflicting classifications of pathogenicity
Select item 584461	NM_000051.4(ATM):c.1110C>A (p.Tyr370Ter)	ATM (Y370*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 127338	NM_000051.4(ATM):c.1444A>C (p.Lys482Gln)	ATM (K482Q)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 127340	NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)	ATM (E522fs)	Microsatellite (frameshift variant)	Seizure +7 more	GPathogenic
Select item 141183	NM_000051.4(ATM):c.2021A>G (p.His674Arg)	ATM (H674R)	Single nucleotide variant (missense variant)	ATM-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 140879	NM_000051.4(ATM):c.2149C>T (p.Arg717Trp)	ATM (R717W)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 3044	NM_000051.4(ATM):c.2250G>A (p.Lys750=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 186418	NM_000051.4(ATM):c.2251-4A>G	ATM	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 127345	NM_000051.4(ATM):c.2269G>A (p.Gly757Arg)	ATM (G757R)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GUncertain significance
Select item 127347	NM_000051.4(ATM):c.2289T>A (p.Phe763Leu)	ATM (F763L)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 216194	NM_000051.4(ATM):c.2480A>G (p.Lys827Arg)	ATM (K827R)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 584462	NM_000051.4(ATM):c.2829_2838+16delinsA	ATM	Indel (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 184953	NM_000051.4(ATM):c.2945G>A (p.Arg982His)	ATM (R982H)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 181993	NM_000051.4(ATM):c.3299C>T (p.Thr1100Met)	ATM (T1100M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 127369	NM_000051.4(ATM):c.3331C>G (p.Leu1111Val)	ATM (L1111V)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +3 more	GUncertain significance
Select item 371378	NM_000051.4(ATM):c.3577-1G>C	ATM	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely pathogenic
Select item 485228	NM_000051.4(ATM):c.3605G>C (p.Gly1202Ala)	ATM (G1202A)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +2 more	GUncertain significance
Select item 232272	NM_000051.4(ATM):c.3676G>C (p.Asp1226His)	ATM (D1226H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 236723	NM_000051.4(ATM):c.4784A>G (p.Asn1595Ser)	ATM (N1595S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 407499	NM_000051.4(ATM):c.4910A>G (p.Asp1637Gly)	ATM (D1637G)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 127413	NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys)	ATM, C11orf65 (Y1961C)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +5 more	GConflicting classifications of pathogenicity
Select item 142126	NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu)	ATM, C11orf65 (K1964E)	Single nucleotide variant (missense variant +1 more)	ATM-related disorder +8 more	GConflicting classifications of pathogenicity
Select item 233016	NM_000051.4(ATM):c.5979_5983del (p.Ser1993fs)	ATM, C11orf65 (S1993fs)	Deletion (frameshift variant +1 more)	Ataxia-telangiectasia syndrome +2 more	GPathogenic
Select item 127415	NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr)	ATM, C11orf65 (K1992T)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +8 more	GConflicting classifications of pathogenicity
Select item 127416	NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)	ATM, C11orf65 (G2023R)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +6 more	GConflicting classifications of pathogenicity
Select item 181981	NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys)	ATM, C11orf65 (R2227C)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +4 more	GPathogenic/Likely pathogenic
Select item 127438	NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser)	ATM, C11orf65 (T2396S)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 186904	NM_000051.4(ATM):c.7235A>G (p.Asn2412Ser)	C11orf65, ATM (N2412S)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 127446	NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg)	C11orf65, ATM (L2492R)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 127447	NM_000051.4(ATM):c.7630-2A>C	ATM, C11orf65	Single nucleotide variant (splice acceptor variant +1 more)	Ataxia-telangiectasia syndrome +4 more	GPathogenic
Select item 181898	NM_000051.4(ATM):c.8428A>C (p.Lys2810Gln)	ATM, C11orf65 (K2810Q)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 142147	NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys)	ATM, C11orf65 (R2854C)	Single nucleotide variant (missense variant +1 more)	ATM-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 133641	NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly)	ATM, C11orf65 (R2912G)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance FDA Recognized database
Select item 186330	NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter)	ATM, C11orf65 (R2993*)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 181987	NM_000051.4(ATM):c.8988-1G>C	ATM, C11orf65	Single nucleotide variant (splice acceptor variant +1 more)	Familial cancer of breast +3 more	GPathogenic/Likely pathogenic
Select item 125965	NM_000059.4(BRCA2):c.-26G>A	BRCA2	Single nucleotide variant (5 prime UTR variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51814	NM_000059.4(BRCA2):c.51_52del (p.Arg18fs)	BRCA2 (R18fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51041	NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter)	BRCA2 (E34*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51129	NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter)	BRCA2 (E49*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 495095	NM_000059.4(BRCA2):c.682-1G>T	BRCA2	Single nucleotide variant (splice acceptor variant)	Familial cancer of breast	GPathogenic
Select item 9326	NM_000059.4(BRCA2):c.771_775del (p.Asn257fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52437	NM_000059.4(BRCA2):c.793+1G>A	BRCA2	Single nucleotide variant (splice donor variant)	Hereditary breast ovarian cancer syndrome +5 more	GPathogenic
Select item 41567	NM_000059.4(BRCA2):c.865A>C (p.Asn289His)	BRCA2 (N289H)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 52924	NM_000059.4(BRCA2):c.994del (p.Ile332fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 252438	NM_000059.4(BRCA2):c.1057del (p.Ser353fs)	BRCA2 (S353fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 495096	NM_000059.4(BRCA2):c.1059del (p.Phe354fs)	BRCA2 (F354fs)	Deletion (frameshift variant)	Familial cancer of breast	GPathogenic
Select item 252439	NM_000059.3(BRCA2):c.1114_1117delinsCATT (p.Asn372_Gln373delinsHisTer)	BRCA2	Indel	Familial cancer of breast	GPathogenic
Select item 9329	NM_000059.4(BRCA2):c.1114A>C (p.Asn372His)	BRCA2 (N372H)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 236829	NM_000059.4(BRCA2):c.1189C>T (p.Gln397Ter)	BRCA2 (Q397*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37737	NM_000059.4(BRCA2):c.1310_1313del (p.Lys437fs)	BRCA2 (K437fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 125943	NM_000059.4(BRCA2):c.1365A>G (p.Ser455=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51113	NM_000059.4(BRCA2):c.1389_1390del (p.Val464fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51119	NM_000059.4(BRCA2):c.1405_1406del (p.Arg468_Asp469insTer)	BRCA2	Microsatellite (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 252442	NM_000059.4(BRCA2):c.1733del (p.Gly578fs)	BRCA2 (G578fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51187	NM_000059.4(BRCA2):c.1763_1766del (p.Asn588fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37762	NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)	BRCA2 (I605fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 252443	NM_000059.4(BRCA2):c.1821dup (p.Asp608fs)	BRCA2 (D608fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 266676	NM_000059.4(BRCA2):c.2095_2096del (p.Gln699fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 125979	NM_000059.4(BRCA2):c.2229T>C (p.His743=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 141070	NM_000059.4(BRCA2):c.2339C>G (p.Ser780Ter)	BRCA2 (S780*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 189178	NM_000059.4(BRCA2):c.2743_2747del (p.Thr915fs)	BRCA2 (T915fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 9322	NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)	BRCA2 (A938fs)	Deletion	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 41545	NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp)	BRCA2 (N991D)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51418	NM_000059.4(BRCA2):c.3189_3192del (p.Ser1064fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 126010	NM_000059.4(BRCA2):c.3396A>G (p.Lys1132=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 462293	NM_000059.4(BRCA2):c.3462del (p.Thr1155fs)	BRCA2 (T1155fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 37846	NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer)	BRCA2	Deletion (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 126022	NM_000059.4(BRCA2):c.3807T>C (p.Val1269=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37859	NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37862	NM_000059.4(BRCA2):c.3865_3868del (p.Lys1289fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51578	NM_000059.4(BRCA2):c.3975_3978dup (p.Ala1327fs)	BRCA2 (A1327fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37892	NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs)	BRCA2 (Q1429fs)	Duplication	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 265056	NM_000059.4(BRCA2):c.4412_4414del (p.Arg1471del)	BRCA2 (R1471del)	Deletion (inframe_deletion)	Breast-ovarian cancer, familial, susceptibility to, 2 +4 more	GUncertain significance
Select item 132779	NM_000059.4(BRCA2):c.4563A>G (p.Leu1521=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37913	NM_000059.4(BRCA2):c.4631del (p.Asn1544fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 252444	NM_000059.4(BRCA2):c.4769del (p.Lys1590fs)	BRCA2 (K1590fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37935	NM_000059.4(BRCA2):c.4936_4939del (p.Glu1646fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37943	NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)	BRCA2 (W1692fs)	Duplication	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51775	NM_000059.4(BRCA2):c.5130_5133del (p.Asp1709_Tyr1710insTer)	BRCA2	Deletion (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic

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